Potential benefit of rapid genetic testing for Pallister–Hall syndrome

Pallister–Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic GLI3 pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic ma...

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Detalles Bibliográficos
Autores principales: Maeda-Usui, Ayaka, Sato, Takeshi, Nakano, Satsuki, Kusakawa, Moe, Kin, Takane, Takahashi, Nobuhiro, Motojima, Yukiko, Asanuma, Hiroshi, Hida, Mariko, Ishii, Tomohiro, Kuroda, Tatsuo, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10068620/
https://www.ncbi.nlm.nih.gov/pubmed/37020703
http://dx.doi.org/10.1297/cpe.2022-0065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10068620/
https://www.ncbi.nlm.nih.gov/pubmed/37020703
http://dx.doi.org/10.1297/cpe.2022-0065

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